A comprehensive review of Mongolian spots with an update on atypical presentations

Alimi, Yusuf; Iwanaga, Joe; Loukas, Marios; Oskouian, Rod J.; Rizk, Elias; Oakes, W. Jerry; Tubbs, R. Shane

doi:10.1007/s00381-018-3929-0

Cited by 14 publications

(6 citation statements)

References 34 publications

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“…Diers et al [16] also reported a 2-monthold girl with Mongolian spots on the buttocks, right shoulder, both lower legs and the back of the foot. Further case reports on Mongolian spots with atypical localization have been published [17][18][19].…”

Section: Discussionmentioning

confidence: 99%

Atypical localized Mongolian spots in dark pigmented skin - a challenge for forensic medical examination

Schlepper,

Hagen,

Schulz

et al. 2024

Int J Legal Med

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The assessment of skin changes in the context of possible child abuse is an important task in forensic medicine. This requires knowledge of pigmentation variants and pigmentation disorders such as congenital dermal melanocytosis, which includes Mongolian spots. Particularly in the case of atypical localization and dark pigmented skin, the differentiation from hematomas can be challenging. A case of two Nigerian siblings with extensive and atypically localized Mongolian spots is reported. The 1.5-year-old girl showed Mongolian spots on her back and the right side of her trunk. The 8-year-old boy showed Mongolian spots only on the back of his thighs. The authors are not aware of any case in which so called Mongolian spots were present exclusively on the back of the thighs and this case is all the more noteworthy as the back of the thigh is a common localization of blunt force trauma.

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Section: Discussionmentioning

confidence: 99%

Atypical localized Mongolian spots in dark pigmented skin - a challenge for forensic medical examination

Schlepper,

Hagen,

Schulz

et al. 2024

Int J Legal Med

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show abstract

“…All dermal melanocytoses share a common pathogenetic scenario, in which the improper migration and/or inappropriate clearance (by macrophages) of melanocytes occurs during fetal development [6]. During transdermal migration (from the neural crest to the developing epidermis), some of the melanocytes may be arrested in the dermis, thereby leading to dermal melanocytosis [12].…”

Section: Discussionmentioning

confidence: 99%

Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report

Romagnuolo,

Moltrasio,

Gasperini

et al. 2023

Children

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Congenital dermal melanocytosis (DM) represents a common birthmark mainly found in children of Asian and darker skin phototype descent, clinically characterized by an oval blue-grey macule or macules, commonly located on the lumbosacral area. In rare DM cases, when presenting with diffuse macules persisting during the first years of life, it could represent a cutaneous feature of mucopolysaccharidoses (MPS). Extensive congenital DM is actually associated with Hurler syndrome (MPS type I) and Hunter syndrome (MPS type II), although several reports also described this association with MPS type VI and other lysosomal storage disorders (LySD), including GM1 gangliosidosis, mucolipidosis, Sandhoff disease, and Niemann–Pick disease. Here, we present the case of a two-year-old boy presenting with extensive dermal melanocytosis, generalized hypertrichosis, and chronic itch, harboring a heterozygous variant of uncertain significance, NM_152419.3: c.493C>T (p.Pro165Ser), in the exon 4 of HGSNAT gene, whose mutations are classically associated with MPS IIIC, also known as Sanfilippo syndrome. This is the first report that highlights the association between extensive congenital DM and MPS type IIIC, as well as a pathogenetic link between heterozygous LySD carrier status and congenital DM. We speculate that some cases of extensive congenital DM could be related to heterozygous LySD carriers, as a manifestation of a mild clinical phenotype.

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“…Pseudo-micro-Hutchinson sign (cuticle pigmentation) may be seen Hyperpigmentation of the oral mucosa 7 Develops during the first 2 decades of life Melanocytic activation with melanin deposition in the epithelium Hyperchromic patches, localized or disseminated. In the gums, they are more common and unaesthetic, especially when there is a high smile line Mongolian spot 25 40% to 90% of black newborns. Usually disappears by the age of 7 Unknown.…”

Section: Physiological Peculiarities Of Black Skinmentioning

confidence: 99%

Dermatology in black skin

Alchorne,

Conceição,

Barraza

et al. 2024

Anais Brasileiros de Dermatologia

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A comprehensive review of Mongolian spots with an update on atypical presentations

Abstract: Physicians should be aware of atypical MS and related conditions in order to further assess these patients for risk of any underlying genetic disorders.

Cited by 14 publications

References 34 publications

Atypical localized Mongolian spots in dark pigmented skin - a challenge for forensic medical examination

Atypical localized Mongolian spots in dark pigmented skin - a challenge for forensic medical examination

Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report

Dermatology in black skin

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